population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies.OBJECTIVE To report disease-causing variants and their detailed phenotype in patients with bilateral congenital cataract from a single center in Switzerland and thereby draw a genetic map and perform a genotype-phenotype comparison of this cohort.DESIGN, SETTING, AND PARTICIPANTS This clinical and molecular-genetic cohort study took place through the collaboration of the

Background Quantitative MRI allows assessment of shoulder rotator cuff (RC) muscles by Dixon MR sequences with calculation of fractional fat content (FF%) maps and diffusion tensor imaging (DTI) including tractography. Purpose To compare FF% and DTI derived parameters among visually intact RC muscles, to compare 2D with 3D DTI measurements and to establish normative values. Study Type Prospective. Subjects Forty patients aged >18 years undergoing shoulder MR arthrography were included. Field Strength/Sequence MR arthrography of the shoulder including 3D multiecho Dixon and 3D echo‐planar DTI sequences (15 gradient encoding directions, b‐value 600 s/mm2) was performed at 3.0T. Assessment Muscles affected by RC tears or fatty infiltration of Goutallier grade ≥1 were excluded. Two independent radiologists measured FF%, apparent diffusion coefficient (ADC), and fractional anisotropy (FA) by region‐of‐interest (ROI) placements at the Y‐position of the scapula and 3D tractography of each muscle with qualitative evaluation was performed. Statistical Tests Intraclass correlation coefficients (ICCs) and Cohen's kappa were used for interreader agreement and Pearson correlation coefficient to correlate quantitative measures with each other and age, independent‐samples t‐test, one‐way analysis of variance (ANOVA), and Kruskal–Wallis test were performed to investigate differences between genders and muscles. Results Qualitative and quantitative measurements showed moderate (κ = 0.41–0.56) to almost perfect (ICC = 0.75–0.99) agreement. There were weak but significant positive correlations of FF% with age (r = 0.273, P < 0.05) and FA‐2D (r = 0.319–0.383, P < 0.05). Significant differences were found among RC muscles for ADC, radial diffusivity (RD), and tract homogeneity (all P < 0.05) but not between genders (all P ≥ 0.05). High correlations of 2D with 3D measurements for ADC (r = 0.639, P < 0.001) and FA (r = 0.628, P < 0.001) were seen. Data Conclusion Quantitative MRI with estimation of FF% and DTI parameters shows significant age‐associated changes and differences among visually intact RC muscles. High reproducibility and correlations of 2D with 3D DTI measurements can be expected. Level of Evidence: 2 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2019;49:109–117.